Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_assertion> ?p ?o ?g. }
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- NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_assertion type Assertion NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_head.
- NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_assertion description "[We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_provenance.
- NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_assertion evidence source_evidence_literature NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_provenance.
- NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_assertion SIO_000772 7550232 NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_provenance.
- NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_assertion wasDerivedFrom befree-2016 NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_provenance.
- NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_assertion wasGeneratedBy ECO_0000203 NP1312150.RA_hTCrQuy4WD4HcjReztivIHB2Akvn4LOkQWAICcnrOU130_provenance.